Amish, Mennonite, and Hutterite
Genetic Disorder Database

Trichothiodystrophy 4, Nonphotosensitive (TTD4)

Disorder
OMIM #: #234050  (Click to access OMIM database)
Disorder: Trichothiodystrophy 4, Nonphotosensitive (TTD4) 
Also known as: TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1
TTDN1
AMISH BRITTLE HAIR BRAIN SYNDROME (ABHS)
HAIR-BRAIN SYNDROME
BIDS SYNDROME
TRICHORRHEXIS NODOSA SYNDROME
POLLITT SYNDROME
TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME 
Clinical
Phenotype: sulphur-deficient brittle hair, nail hypoplasia or dysplasia, developmental delay/mental retardation, growth deficiency, thick or ichthyotic skin, decreased fertility, infertility, sun-sensitive 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
ReferencesJackson CE, Weiss L, and Watson JH. (1974) "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54(2): 201-207.
PubMed ID: 4847854
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, and Scherer SW. (2005) Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 76(3): 510-516.
PubMed ID: 15645389
1   Amish  
Gene: MPLKIP (C7orf11)
Base Change: A>G, at nucleotide 430
Amino Acid Change: met 144 --> val
Last updated: 2018-12-12 

References
Allen, RJ. (1971) Neurocutaneous syndromes in children. Postgrad Med J 50: 83-89.  
Jackson CE, Weiss L, and Watson JH. (1974) "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54(2): 201-207.
PubMed ID: 4847854 
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, and Scherer SW. (2005) Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 76(3): 510-516.
PubMed ID: 15645389 

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