Open AccessMaternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
Author(s) -
Zhang Chuan,
Hao Shengju,
Zhang Qinghua,
Liu Furong,
Zhou Bingbo,
Xuan Feng,
Xing Wang,
Chen Xue,
Wang Yan,
Ma Panpan,
Cao Zongfu,
Ma Xu
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23407
Subject(s) - proband , uniparental disomy , genetics , snp array , genomic imprinting , sensorineural hearing loss , karyotype , loss of heterozygosity , hearing loss , neurodevelopmental disorder , genetic testing , copy number variation , rett syndrome , genetic disorder , medicine , allele , biology , chromosome , mutation , gene , single nucleotide polymorphism , audiology , genome , genotype , gene expression , dna methylation
Background Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by sensorineural hearing loss. Methods Karyotyping analysis was performed to investigate any chromosomal abnormalities. Whole‐genome copy number variation and loss of heterozygosity were analyzed using an Affymetrix CytoScan 750 K Microarray. Variant screening was performed by targeted next‐generation sequencing on all known deafness‐causing genes. Results The proband was a patient with SRS caused by maternal uniparental disomy 7. The PDS of the proband was caused by homozygous variant c.919‐2A > G of SLC26A4 ; both mutated alleles were inherited from his mother. Conclusion This is the first report of uniparental disomy 7 leading to SRS and Pendred syndrome. Patients with intrauterine growth retardation or those born small for gestational age and exhibiting postnatal growth failure should undergo molecular testing to reach a clinical diagnosis.