Publication: Duplication of 10q24.31 in a family with congenital nystagmus and split-hand/foot malformation
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Date
2021-09-18
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Abstract
Introduction: Split-hand/split-foot malformation (SHFM),also known as ectrodactyly,is a congenital limb malformation caused by absence of
central rays. Phenotypic spectrum can range from a median cleft of the hand and/or foot to monodactyly. It occurs in 1/8500-1/25000
newborns. It can be isolated or with various syndromes. For isolated types seven loci were found responsible. However molecular mechanism
was not elucidated in split-hand with congenital nystagmus,fundal changes,and cataracts syndrome (OMIM:183800), also known as KarschNeugebauer syndrome (KNS).
Cases: Five-month-old female patient was referred to our clinic because of having SHFM. SHFM was detected by prenatal USG. Natal and
postnatal histories were normal. Opththalmological consultation revealed congenital nystagmus,and strabismus. Her growth parameters
were normal. Strabismus,nystagmus,epicanthus,upslanting palpebral fissures, flattened nasal root,anteverted nares,micrognathia,and monodactyly of four limbs were detected. Her mother had also similar phenotype. No additional anomaly was detected in both. A-CGH
analysis revealed 419,9 kb heterozygous duplication in 10q24.31 containing LBX1, BTRC, POLL, FBXW4 genes. Segregation studies still
continue.
Discussion: Although SHFM3 is one of the most common types of SHFM, nystagmus had not been reported in any patient in the literature.
On the other hand,SHFM and nystagmus are the key features in the KNS. Herein we report a family with KNS harboring the duplication of
10q24.31. To best of our knowledge this is the first report to illuminate the molecular mechanism of KNS. More cases and functional studies
are needed to distinguish whether SHFM3 and KNS are same or different entity.
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Keywords
10q24.31, SHFM, Ectrodactyly, Nystagmus, Karsch-Neugebauer
Citation
ALAVANDA C., UĞUZDOĞAN F., Demir Ş., POLAT H., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A., \"Duplication of 10q24.31 in a family with Congenital Nystagmus and Split-hand/foot Malformation\", 6.Uluslararası katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, 16 Eylül 2021