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NA20000 DNA from LCL

Description:

CORNELIA DE LANGE SYNDROME 1; CDLS1
NIPPED-B-LIKE; NIPBL

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race More than one race
Ethnicity CAUCASIAN/HISPANIC
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; pregnancy complicated by IUGR and oligohydramnios; born at 38 weeks gestation; birthweight 1637g (<10th percentile), birthlength 40.5 cm (<10th percentile), head circumference at birth 29 cm (<10th percentile); poor respiratory effort in the delivery room necessitated intubation; GE reflux; at one day of life EKG showed left axis deviation, nonspecific intraventricular block and left ventricular hypertrophy with repolarization abnormality but repeat EKG at 5 days of life was normal; ECHO showed patent foramen ovale and some tricuspid regurgitation; moderate bilateral hydronephrosis; undescended testicles and midline chordee; ptosis; glaucoma; single left forearm bone with presence only of a thumb and 2nd finger; contracture of elbow on left; right hand showed distal hypoplasia and synphalangism of the 5th finger; head ultrasound on day one of life showed enlargement of cisterna magna; arachnoid cyst noted on brain MRI; brain CT showed small right posterior fossa subdural hemorrhage; severe hearing loss bilaterally per failed BAER in neonatal period and at 6 months of age; brachycephaly; depressed nasal bridge; synophyrys; thin upper lip; hirsutism; thick, curly eyelashes; high, ridged palate; posteriorly rotated and cupped ears; hypoplastic nipples and umbilicus; small feet; history of 3 hospitalizations involving feeding and respiratory problems; at 13 months of age: height was 59.5 cm (<5th percentile), weight was 4.75 kg (<5th percentile), head circumference was 39.25 cm (<3rd percentile); donor subject carries a 5721del5 frameshift mutation in exon 31 of the NIPBL gene. The deletion begins with a change in the third codon for Asparagine at position 1907, which is therefore conserved. The deletion results in a stop codon 13 amino acids after this site at position 1920 (N1907fsX13).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene NIPBL
Chromosomal Location 5p13.1
Allelic Variant 1 N1907fsX13; CORNELIA DE LANGE SYNDROME
Identified Mutation 5721del5

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 1 YR
Sex Male
Racial Category More than one race
 
Data Elements
Clinical Element Type: Cornelia deLange
  (Baseline)
Inheritance
Inheritance Mode  No Data
Growth
Prenatal growth retardation present   absent  unknown 
Short stature present   absent  unknown 
Specific growth curves are available present  absent  unknown  
Head and Neck
Microcephaly present   absent  unknown 
Brachycephaly present   absent  unknown 
Long philtrum present  absent  unknown  
Micrognathia present  absent  unknown  
Low-set ears present  absent  unknown  
Hearing loss present   absent  unknown 
Synophrys present   absent  unknown 
Myopia present  absent  unknown  
Long curly eyelashes present   absent  unknown 
Anteverted nostrils present  absent  unknown  
Depressed nasal bridge present   absent  unknown 
Thin upper lip present   absent  unknown 
Downturned corners of the mouth present  absent  unknown  
High arched palate present   absent  unknown 
Cleft lip/palate present  absent  unknown  
Widely spaced teeth present  absent  unknown  
Late-erupting teeth present  absent  unknown  
Short neck present  absent  unknown  
Cardiovascular
Congenital heart defect present  absent  unknown  
Respiratory
Pneumonia present  absent  unknown  
Congenital diaphragmatic hernia present  absent  unknown  
Chest
Small nipples present   absent  unknown 
Abdomen
Gastroesophageal reflux present   absent  unknown 
Pyloric stenosis present  absent  unknown  
Genitourinary
Hypoplastic male genitalia present  absent  unknown  
Cryptorchidism present   absent  unknown 
Skeletal
Limited elbow extension present  absent  unknown  
Dislocation of the radial head present  absent  unknown  
Phocomelia present  absent  unknown  
Single transverse palmar crease present  absent  unknown  
Proximally placed thumbs present  absent  unknown  
Fifth finger clinodactyly present  absent  unknown  
Oligodactyly present  absent  unknown  
Syndactyly of toes 2 and 3 present  absent  unknown  
Skin, Hair, Nails
Cutis marmorata present  absent  unknown  
Single transverse palmar crease present  absent  unknown  
Hirsutism present   absent  unknown 
Low posterior hair line present  absent  unknown  
Neurologic
Mental retardation present  absent  unknown  
Hypertonicity present  absent  unknown  
Developmental delay present  absent  unknown  
Seizures present  absent  unknown  
Voice
Low-pitched, growling cry in infancy present  absent  unknown  
Molecular Basis
NIPBL gene mutation present   absent  unknown 
SMC1L1 gene mutation present  absent  unknown  
SMC3 gene mutation present  absent  unknown  
Remarks Clinically affected; pregnancy complicated by IUGR and oligohydramnios; born at 38 weeks gestation; birthweight 1637g (<10th percentile), birthlength 40.5 cm (<10th percentile), head circumference at birth 29 cm (<10th percentile); poor respiratory effort in the delivery room necessitated intubation; GE reflux; at one day of life EKG showed left axis deviation, nonspecific intraventricular block and left ventricular hypertrophy with repolarization abnormality but repeat EKG at 5 days of life was normal; ECHO showed patent foramen ovale and some tricuspid regurgitation; moderate bilateral hydronephrosis; undescended testicles and midline chordee; ptosis; glaucoma; single left forearm bone with presence only of a thumb and 2nd finger; contracture of elbow on left; right hand showed distal hypoplasia and synphalangism of the 5th finger; head ultrasound on day one of life showed enlargement of cisterna magna; arachnoid cyst noted on brain MRI; brain CT showed small right posterior fossa subdural hemorrhage; severe hearing loss bilaterally per failed BAER in neonatal period and at 6 months of age; brachycephaly; depressed nasal bridge; synophyrys; thin upper lip; hirsutism; thick, curly eyelashes; high, ridged palate; posteriorly rotated and cupped ears; hypoplastic nipples and umbilicus; small feet; history of 3 hospitalizations involving feeding and respiratory problems; at 13 months of age: height was 59.5 cm (<5th percentile), weight was 4.75 kg (<5th percentile), head circumference was 39.25 cm (<3rd percentile); donor subject carries a 5721del5 frameshift mutation in exon 31 of the NIPBL gene. The deletion begins with a change in the third codon for Asparagine at position 1907, which is therefore conserved. The deletion results in a stop codon 13 amino acids after this site at position 1920 (N1907fsX13).

Publications

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ENCODE Project Consortium , Dunham I, Kundaje A, Aldred SF, Collins PJ, Davis CA, Doyle F, Epstein CB, Frietze S, Harrow J, Kaul R, Khatun J, Lajoie BR, Landt SG, Lee BK, Pauli F, Rosenbloom KR, Sabo P, Safi A, Sanyal A, Shoresh N, Simon JM, Song L, Trinklein ND, Altshuler RC, Birney E, Brown JB, Cheng C, Djebali S, Dong X, Dunham I, Ernst J, Furey TS, Gerstein M, Giardine B, Greven M, Hardison RC, Harris RS, Herrero J, Hoffman MM, Iyer S, Kelllis M, Khatun J, Kheradpour P, Kundaje A, Lassman T, Li Q, Lin X, Marinov GK, Merkel A, Mortazavi A, Parker SC, Reddy TE, Rozowsky J, Schlesinger F, Thurman RE, Wang J, Ward LD, Whitfield TW, Wilder SP, Wu W, Xi HS, Yip KY, Zhuang J, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M, Pazin MJ, Lowdon RF, Dillon LA, Adams LB, Kelly CJ, Zhang J, Wexler JR, Green ED, Good PJ, Feingold EA, Bernstein BE, Birney E, Crawford GE, Dekker J, Elinitski L, Farnham PJ, Gerstein M, Giddings MC, Gingeras TR, Green ED, Guigó R, Hardison RC, Hubbard TJ, Kellis M, Kent WJ, Lieb JD, Margulies EH, Myers RM, Snyder M, Starnatoyannopoulos JA, Tennebaum SA, Weng Z, White KP, Wold B, Khatun J, Yu Y, Wrobel J, Risk BA, Gunawardena HP, Kuiper HC, Maier CW, Xie L, Chen X, Giddings MC, Bernstein BE, Epstein CB, Shoresh N, Ernst J, Kheradpour P, Mikkelsen TS, Gillespie S, Goren A, Ram O, Zhang X, Wang L, Issner R, Coyne MJ, Durham T, Ku M, Truong T, Ward LD, Altshuler RC, Eaton ML, Kellis M, Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tanzer A, Lagarde J, Lin W, Schlesinger F, Xue C, Marinov GK, Khatun J, Williams BA, Zaleski C, Rozowsky J, Röder M, Kokocinski F, Abdelhamid RF, Alioto T, Antoshechkin I, Baer MT, Batut P, Bell I, Bell K, Chakrabortty S, Chen X, Chrast J, Curado J, Derrien T, Drenkow J, Dumais E, Dumais J, Duttagupta R, Fastuca M, Fejes-Toth K, Ferreira P, Foissac S, Fullwood MJ, Gao H, Gonzalez D, Gordon A, Gunawardena HP, Howald C, Jha S, Johnson R, Kapranov P, King B, Kingswood C, Li G, Luo OJ, Park E, Preall JB, Presaud K, Ribeca P, Risk BA, Robyr D, Ruan X, Sammeth M, Sandu KS, Schaeffer L, See LH, Shahab A, Skancke J, Suzuki AM, Takahashi H, Tilgner H, Trout D, Walters N, Wang H, Wrobel J, Yu Y, Hayashizaki Y, Harrow J, Gerstein M, Hubbard TJ, Reymond A, Antonarakis SE, Hannon GJ, Giddings MC, Ruan Y, Wold B, Carninci P, Guigó R, Gingeras TR, Rosenbloom KR, Sloan CA, Learned K, Malladi VS, Wong MC, Barber GP, Cline MS, Dreszer TR, Heitner SG, Karolchik D, Kent WJ, Kirkup VM, Meyer LR, Long JC, Maddren M, Raney BJ, Furey TS, Song L, Grasfeder LL, Giresi PG, Lee BK, Battenhouse A, Sheffield NC, Simon JM, Showers KA, Safi A, London D, Bhinge AA, Shestak C, Schaner MR, Kim SK, Zhang ZZ, Mieczkowski PA, Mieczkowska JO, Liu Z, McDaniell RM, Ni Y, Rashid NU, Kim MJ, Adar S, Zhang Z, Wang T, Winter D, Keefe D, Birney E, Iyer VR, Lieb JD, Crawford GE, Li G, Sandhu KS, Zheng M, Wang P, Luo OJ, Shahab A, Fullwood MJ, Ruan X, Ruan Y, Myers RM, Pauli F, Williams BA, Gertz J, Marinov GK, Reddy TE, Vielmetter J, Partridge EC, Trout D, Varley KE, Gasper C, Bansal A, Pepke S, Jain P, Amrhein H, Bowling KM, Anaya M, Cross MK, King B, Muratet MA, Antoshechkin I, Newberry KM, McCue K, Nesmith AS, Fisher-Aylor KI, Pusey B, DeSalvo G, Parker SL, Balasubramanian S, Davis NS, Meadows SK, Eggleston T, Gunter C, Newberry JS, Levy SE, Absher DM, Mortazavi A, Wong WH, Wold B, Blow MJ, Visel A, Pennachio LA, Elnitski L, Margulies EH, Parker SC, Petrykowska HM, Abyzov A, Aken B, Barrell D, Barson G, Berry A, Bignell A, Boychenko V, Bussotti G, Chrast J, Davidson C, Derrien T, Despacio-Reyes G, Diekhans M, Ezkurdia I, Frankish A, Gilbert J, Gonzalez JM, Griffiths E, Harte R, Hendrix DA, Howald C, Hunt T, Jungreis I, Kay M, Khurana E, Kokocinski F, Leng J, Lin MF, Loveland J, Lu Z, Manthravadi D, Mariotti M, Mudge J, Mukherjee G, Notredame C, Pei B, Rodriguez JM, Saunders G, Sboner A, Searle S, Sisu C, Snow C, Steward C, Tanzer A, Tapanan E, Tress ML, van Baren MJ, Walters N, Washieti S, Wilming L, Zadissa A, Zhengdong Z, Brent M, Haussler D, Kellis M, Valencia A, Gerstein M, Raymond A, Guigó R, Harrow J, Hubbard TJ, Landt SG, Frietze S, Abyzov A, Addleman N, Alexander RP, Auerbach RK, Balasubramanian S, Bettinger K, Bhardwaj N, Boyle AP, Cao AR, Cayting P, Charos A, Cheng Y, Cheng C, Eastman C, Euskirchen G, Fleming JD, Grubert F, Habegger L, Hariharan M, Harmanci A, Iyenger S, Jin VX, Karczewski KJ, Kasowski M, Lacroute P, Lam H, Larnarre-Vincent N, Leng J, Lian J, Lindahl-Allen M, Min R, Miotto B, Monahan H, Moqtaderi Z, Mu XJ, O'Geen H, Ouyang Z, Patacsil D, Pei B, Raha D, Ramirez L, Reed B, Rozowsky J, Sboner A, Shi M, Sisu C, Slifer T, Witt H, Wu L, Xu X, Yan KK, Yang X, Yip KY, Zhang Z, Struhl K, Weissman SM, Gerstein M, Farnham PJ, Snyder M, Tenebaum SA, Penalva LO, Doyle F, Karmakar S, Landt SG, Bhanvadia RR, Choudhury A, Domanus M, Ma L, Moran J, Patacsil D, Slifer T, Victorsen A, Yang X, Snyder M, White KP, Auer T, Centarin L, Eichenlaub M, Gruhl F, Heerman S, Hoeckendorf B, Inoue D, Kellner T, Kirchmaier S, Mueller C, Reinhardt R, Schertel L, Schneider S, Sinn R, Wittbrodt B, Wittbrodt J, Weng Z, Whitfield TW, Wang J, Collins PJ, Aldred SF, Trinklein ND, Partridge EC, Myers RM, Dekker J, Jain G, Lajoie BR, Sanyal A, Balasundaram G, Bates DL, Byron R, Canfield TK, Diegel MJ, Dunn D, Ebersol AK, Ebersol AK, Frum T, Garg K, Gist E, Hansen RS, Boatman L, Haugen E, Humbert R, Jain G, Johnson AK, Johnson EM, Kutyavin TM, Lajoie BR, Lee K, Lotakis D, Maurano MT, Neph SJ, Neri FV, Nguyen ED, Qu H, Reynolds AP, Roach V, Rynes E, Sabo P, Sanchez ME, Sandstrom RS, Sanyal A, Shafer AO, Stergachis AB, Thomas S, Thurman RE, Vernot B, Vierstra J, Vong S, Wang H, Weaver MA, Yan Y, Zhang M, Akey JA, Bender M, Dorschner MO, Groudine M, MacCoss MJ, Navas P, Stamatoyannopoulos G, Kaul R, Dekker J, Stamatoyannopoulos JA, Dunham I, Beal K, Brazma A, Flicek P, Herrero J, Johnson N, Keefe D, Lukk M, Luscombe NM, Sobral D, Vaquerizas JM, Wilder SP, Batzoglou S, Sidow A, Hussami N, Kyriazopoulou-Panagiotopoulou S, Libbrecht MW, Schaub MA, Kundaje A, Hardison RC, Miller W, Giardine B, Harris RS, Wu W, Bickel PJ, Banfai B, Boley NP, Brown JB, Huang H, Li Q, Li JJ, Noble WS, Bilmes JA, Buske OJ, Hoffman MM, Sahu AO, Kharchenko PV, Park PJ, Baker D, Taylor J, Weng Z, Iyer S, Dong X, Greven M, Lin X, Wang J, Xi HS, Zhuang J, Gerstein M, Alexander RP, Balasubramanian S, Cheng C, Harmanci A, Lochovsky L, Min R, Mu XJ, Rozowsky J, Yan KK, Yip KY, Birney E, An integrated encyclopedia of DNA elements in the human genome Nature489:57-74 2011
PubMed ID: 22955616

External Links

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dbSNP dbSNP ID: 22684
Gene Cards NIPBL
Gene Ontology GO:0005634 nucleus
GO:0007049 cell cycle
NCBI Gene Gene ID:25836
NCBI GTR 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
608667 NIPPED-B-LIKE; NIPBL
OMIM 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
608667 NIPPED-B-LIKE; NIPBL
Omim Description BRACHMANN-DE LANGE SYNDROME; BDLS
  CORNELIA DE LANGE SYNDROME 1; CDL1
  CORNELIA DE LANGE SYNDROME; CDL
  TYPUS DEGENERATIVUS AMSTELODAMENSIS
Pricing
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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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