China
Africa
Explore chapters and articles related to this topic
Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Numerous studies have shown that cleft palate alone runs in most families (apart from Van der Woude syndrome) separately from cleft lip with or without cleft palate. Table 17.1 summarises the overall risks. As expected with polygenic inheritance, the presence of other affected family members considerably raises the risks. The population incidence of cleft lip (with or without cleft palate) is 1 in 500–1,000, compared with around 1 in 2,500 for isolated cleft palate. A small number of X-linked families have been documented with cleft palate and ankyloglossia, associated with mutations in TBX22. While of great interest for the developmental biology, these families do not affect the overall risk of recurrence.
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene
Published in Ophthalmic Genetics, 2023
Bilge Batu Oto, Deniz Ağırbaşlı, Oğuzhan Kılıçarslan, Gökhan Celik, Aysel Kalayci Yigin, Mehmet Seven, Hüseyin Yetik
WES results displayed homozygous intronic splice site variant (c.103 + 1 G>T) in POC1A, hemizygous intronic splice site variant (c.459-5T>A) in TBX22, and a heterozygous missense variant (c.2254 C>T) in DDR2 genes. The variants to ACMG (American College of Medical Genetics) guidelines were defined as pathogenic in in-silico databases. Biallelic POC1A gene variants are responsible for SOFT syndrome and hemizygous TBX22 gene variants cause a very rare syndrome called Abruzzo Erickson (MIM302905). The patient carried none of the phenotypic characteristics of Abruzzo Erickson Syndrome. All pathogenic variants were associated with short stature. The WES analysis did not reveal a genetic variant associated with enhanced cone syndrome or retinitis pigmentosa according to the panel filtering. The segregation analysis of detected mutations was tested in parents using Sanger sequencing to screen the carrier status, and heterozygosity of the variant (c.103 + 1 G>T) in POC1A gene was confirmed for both of the parents. The father was heterozygous for the missense variant (c.2254 C>T) in DDR2 gene.