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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. | LitMetric

AI Article Synopsis

  • * Recent research identified new mutations in the POC1A gene in two individuals, further confirming its association with SOFT syndrome, which includes symptoms like short stature and facial differences.
  • * One patient displayed additional complications not seen before in this syndrome, highlighting the need to consider POC1A mutations when diagnosing severe growth issues and related physical traits.

Article Abstract

Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges.

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Source
http://dx.doi.org/10.1002/ajmg.a.37393DOI Listing

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