Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing.
Nagamani
Sandesh Chakravarthy Sreenath
SC
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Erez
Ayelet
A
Eng
Christine
C
Ou
Zhishuo
Z
Chinault
Craig
C
Workman
Laura
L
Coldwell
James
J
Stankiewicz
Pawel
P
Patel
Ankita
A
Lupski
James R
JR
Cheung
Sau Wai
SW
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D002658:Developmental Disabilities / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D034381:Hearing Loss / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008831:Microcephaly / Q000473:pathology*; D019255:NADPH Oxidases / Q000235:genetics; D013577:Syndrome
D008565:Membrane Proteins; D019255:NADPH Oxidases; C431570:Nox3 protein, human