Trichohepatoneurodevelopmental syndrome

Disorder
OMIM #:	#618268 (Click to access OMIM database)
Disorder:	Trichohepatoneurodevelopmental syndrome
Also known as:	THNS CCDC47 deficiency
Clinical
Phenotype:	woolly hair, chest hypertrichosis, liver dysfunction, pruritus, microcephaly, other skeletal defects, facial dysmorphism, hypotonia, global developmental delay
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Amish
Gene:	CCDC47
Base Change:	c.1145delT
Amino Acid Change:	p.Leu382Argfs*2
Last updated:	2022-11-15

References
Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, et al. (2018) Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 2018 Nov 1;103(5):794-807. PubMed ID: 30401460

References

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, et al. (2018) Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 2018 Nov 1;103(5):794-807.
PubMed ID: 30401460

Back