GM21654

GM21654 LCL from B-Lymphocyte

Description:

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2
CENTROSOMAL PROTEIN, 57-KD; CEP57

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Ethnicity

Hispanic/Latino

Ethnicity

MEXICAN

Family Member

Relation to Proband

proband

Confirmation

Karyotypic analysis before cell line submission to CCR

ISCN

45-50,XY,+X[2],-Y[1],-2[1],-5[1],+5[2],+6[1],+7[1],+9[1],+13[1],+14[2],+15[2],+21[1],+22[1],+mar[1][cp50]

Species

Homo sapiens

Common Name

Human

Remarks

Laringeal stridor without respiratory distress was noted at birth; laryngoscopy revealed a laryngeal cyst; hypothyroidism diagnosed at age 6 months; dolichocephaly; prominent occiput; frontal bossing; triangular face; inverted epicanthic folds; small nose; micrognathia; low-set ears; cafe au lait spot of 8 cm diameter in left pectoral region with irregular borders; clinodactyly of hands; cranial CAT scan, eyes, abdomen and genitalia are normal; no evidence of malignancy; affected sister is GM21655; molecular analysis showed no BUB1B mutation

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

CEP57

Chromosomal Location

11q21

Allelic Variant 1

607951.0001; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2

Identified Mutation

c.520_521del (p.Glu174fs)

Gene

CEP57

Chromosomal Location

11q21

Allelic Variant 2

607951.0002; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2

Identified Mutation

c.915_925dup (p.Leu309fs)

Phenotypic Data

Remarks

Publications

Watanabe K, Takao D, Ito KK, Takahashi M, Kitagawa D, The Cep57-pericentrin module organizes PCM expansion and centriole engagement Nature communications10:931 2017

PubMed ID: 30804344