Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical.

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Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki, Kanefusa Kato, Shin-ichi Sonta, Hiroshi Ono, Tsutomu Yamanaka, Masahiro Nagaya, Nobuaki Wakamatsu The American Journal of Human Genetics Volume 69, Issue 6, Pages 1178-1185 (December 2001) DOI: 10.1086/324343 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic representation of the structural organization of SIP1 and of the positions of the identified mutations. Three functional domains (SBD, HD, and N- and C-ZF) and six identified mutations are given, with patient numbers. The American Journal of Human Genetics 2001 69, 1178-1185DOI: (10.1086/324343) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Facial features of patients. Patients 6, 7, 8, and 11, at age 6, 7, 18, and 1 year(s), respectively. They demonstrate hypertelorism (in all cases), prognathism (in all cases), a low nasal root (in the cases of patients 6, 7, and 11), absence of the internal part of the eyebrows (in all cases), and strabismus (in the case of patient 11). Patients 6 and 7 underwent surgical correction of strabismus at age 3 years. The American Journal of Human Genetics 2001 69, 1178-1185DOI: (10.1086/324343) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Expression patterns of ZFHX1B. A, Autoradiograph showing hybridization with a 685-bp ZFHX1B cDNA against a Multiple Tissue Expression Array mRNA dot blot. The order and arrangement of applied samples are given in panel B. C, Autoradiographs of northern blots hybridized with a 4.1-kb ZFHX1B full-length cDNA (containing all exons) and a 2.0-kb human β-actin cDNA as a control: lane 1, brain; lane 2, heart; lane 3, skeletal muscle; lane 4, colon; lane 5, thymus; lane 6, spleen; lane 7, kidney; lane 8, liver; lane 9, small intestine; lane 10, placenta; lane 11, lung; and lane 12, peripheral blood leukocytes. The American Journal of Human Genetics 2001 69, 1178-1185DOI: (10.1086/324343) Copyright © 2001 The American Society of Human Genetics Terms and Conditions