SCIENTIFIC BACKGROUND

C2CD3, CPLANE1, DDX59, OFD1, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231

Category:

Orofaciodigital syndromes (OFD) are a heterogeneous group of rare developmental disorders with a prevalence of approximately 1:50,000 live births. OFD are characterized by facial, oral, and finger anomalies. However, a wide range of additional features affecting the central nervous system and visceral organs such as the kidney, liver, and pancreas have also been observed, leading to the clinical differentiation of various OFD subtypes. The subtypes generally follow an autosomal recessive inheritance pattern. The most common form of OFD (OFD type 1), though, is inherited in an X-linked pattern and embryonically lethal in the males. Only a subset of OFD type 1 cases show a familial pattern of inheritance; the majority of pathogenic changes (approximately 75%) occur sporadically.

 

References

Bruel et al 2017, J Med Genet 54:371 / Franco et Thauvin-Robinet 2016, Cilia 5:12 / Thauvin-Robinet et al 2009, Hum Mutat 30:E320

GENES

C2CD3, CPLANE1, DDX59, OFD1, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231

ASSOCIATED TESTS

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