Citation
Alanay, Yasemin, et al. "TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia." American Journal of Medical Genetics. Part A, vol. 164A, no. 2, 2014, pp. 291-304.
Alanay Y, Ergüner B, Utine E, et al. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014;164A(2):291-304.
Alanay, Y., Ergüner, B., Utine, E., Haçariz, O., Kiper, P. O., Taşkıran, E. Z., Perçin, F., Uz, E., Sağiroğlu, M. Ş., Yuksel, B., Boduroglu, K., & Akarsu, N. A. (2014). TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. American Journal of Medical Genetics. Part A, 164A(2), 291-304. https://doi.org/10.1002/ajmg.a.36248
Alanay Y, et al. TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia. Am J Med Genet A. 2014;164A(2):291-304. PubMed PMID: 24194475.
TY - JOUR
T1 - TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
AU - Alanay,Yasemin,
AU - Ergüner,Bekir,
AU - Utine,Eda,
AU - Haçariz,Orçun,
AU - Kiper,Pelin Ozlem Simsek,
AU - Taşkıran,Ekim Zihni,
AU - Perçin,Ferda,
AU - Uz,Elif,
AU - Sağiroğlu,Mahmut Şamil,
AU - Yuksel,Bayram,
AU - Boduroglu,Koray,
AU - Akarsu,Nurten Ayse,
Y1 - 2013/11/05/
PY - 2013/06/19/received
PY - 2013/08/19/accepted
PY - 2013/11/7/entrez
PY - 2013/11/7/pubmed
PY - 2014/9/12/medline
KW - TMCO1
KW - TMCO1-defect
KW - cerebrofaciothoracic dysplasia
KW - whole exome-sequencing
SP - 291
EP - 304
JF - American journal of medical genetics. Part A
JO - Am J Med Genet A
VL - 164A
IS - 2
N2 - Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. The underlying genetic defect remains unknown. Using combination of homozygosity mapping and whole-exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in the human transmembrane and coiled-coil domains protein 1 (TMCO1) in four out of five families of Turkish origin. The entire critical region on chromosome 1q24 containing TMCO1 was excluded in the fifth family with characteristic findings of CFT providing evidence for genetic heterogeneity of CFT spectrum. Another founder TMCO1 mutation has recently been reported to cause a unique genetic condition, TMCO1-defect syndrome (OMIM #614132). TMCO1-defect syndrome shares many features with CFT. This study supports the fact that "TMCO1-defect syndrome," initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum.
SN - 1552-4833
UR - https://www.unboundmedicine.com/medline/citation/24194475/TMCO1_deficiency_causes_autosomal_recessive_cerebrofaciothoracic_dysplasia_
L2 - https://doi.org/10.1002/ajmg.a.36248
DB - PRIME
DP - Unbound Medicine
ER -