GM25252

GM25252 LCL from B-Lymphocyte

Description:

FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
CHROMOSOME DELETION
ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities
Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Amish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Karyotypic analysis before cell line submission to CCR

ISCN

46,XX.arr[hg19]12q24.11(110,817,265-110,826,300)x0 Homozygous for 8054 bp deletion of ANAPC7 gene 1 by Affy CytoScan HD array

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at birth; diagnosed at 8 months of age; at birth: needed transient period of oxygen supplementation; hypotonia noted at birth and maintained throughout infancy; epicanthal folds; almond-shaped eyes; mild pseudo-strabismus; small, slightly recessed chin; partial tongue protrusion; eustachian tube dysfunction (tube placement) and auditory neuropathy spectrum disorder (chronic mucoid effusions, conductive hearing loss, intact cochlear responses with tubes but abnormal ABR waveform with V present bilaterally); months 4-6: very sleepy (had to be woken for feeds); no social smile at 6 months; global developmental delay; gross motor delay (sat at 8 months, pulled to stand at 13.5 months, not walking at 15 months); at 15 months of age she smiled, made eye contact, explored and played with toys, used adept hand movements for manipulating toys, engages in imaginative and cooperative play, had pincer grasp, pointed to objects of interest and pictures in books, followed simple commands (go sit in high chair), waved bye-bye, beckoned “come here” with her hand and babbled; donor subject is homozygous for 8054 bp deletion (exon 4) in ANAPC7, resulting in deletion of exons 4, 5 and 6; characterized by Affymetrix Cytoscan HD array using genome build hg19 (UCSC) = build 36 (NCBI), and exact breakpoints determined by Sanger sequencing; both parents are heterozygous for the 8054 bp deletion; mother is GM25253.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

ANAPC7

Chromosomal Location

12q24.11

Allelic Variant 1

; FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME

Identified Mutation

Ex4-6del; 8054 bp deletion

Gene

ANAPC7

Chromosomal Location

12q24.11

Allelic Variant 2

; FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME

Identified Mutation

Ex4-6del; 8054 bp deletion

Phenotypic Data

Remarks

Publications

Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A, APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain Molecular cell82:90-105.e13 2020

PubMed ID: 34942119