Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations

A report of another Egyptian patient with Temtamy preaxial brachydactyly syndrome associated with a novel nonsense CHSY1 mutation

“…These are common findings, present in more than 70% of cases as reported by Temtamy et al (2012). These are common findings, present in more than 70% of cases as reported by Temtamy et al (2012).…”

“…These were described by Temtamy et al (2012) as universal findings in the syndrome. These were described by Temtamy et al (2012) as universal findings in the syndrome.…”

“…2b) across a wide range of species and was not found in 200 normal chromosomes, thus excluding the possibility of being a polymorphism. We have previously described seven Egyptian patients from five unrelated families with TPBS carrying five distinct mutations in the CHYS1 gene; two frameshift mutations in exon 1, and three missense mutations in exons 2 and 3 (Li et al, 2010;Temtamy et al, 2012). To the best of our knowledge this is the second nonsense mutation to be reported in the CHSY1 gene, as Li et al (2010) reported a Turkish family in which three affected members were homozygous for a nonsense mutation in exon 1, c.205C4T, Q69X.…”

“…Other associated manifestations were reported in the syndrome in the form of delayed motor and mental development, dental and ocular anomalies, sensorineural hearing loss, skeletal deformities, and decreased bone mineral density (Temtamy et al, 1998(Temtamy et al, , 2012Temtamy and Aglan, 2008). It is mainly diagnosed by the presence of bilateral, symmetric preaxial brachydactyly and hyperphalangism of digits, in addition to characteristic facial features.…”

Two different Temtamy syndromes

“…Because of the variable phenotype observed by Temtamy et al (2012) in the 16 reported cases, I recommend that Dias et al (2012) have their patient tested for the CHSY1 mutation.…”