Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation

Atik, Tahir; Karakoyun, Miray; Sukalo, Maja; Zenker, Martin; Özkınay, Ferda; Aydoğdu, Sema

doi:10.1016/j.gene.2015.06.082

Cited by 10 publications

(9 citation statements)

References 19 publications

(29 reference statements)

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“…Milder JBS phenotypes have been described, thus the absence of multiple congenital anomalies or mental retardation does not rule out this syndrome. 78, 79 …”

Section: Exocrine Pancreatic Insufficiency (Epi)mentioning

confidence: 99%

Pancreatic Disorders

Uç

Fishman

2017

Pediatric Clinics of North America

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Synopsis Once considered uncommon, pancreatic diseases are increasingly recognized in the pediatric age group. Acute, acute recurrent and chronic pancreatitis occur in children with an incidence approaching that of adults. The risk factors in the pediatric age group are broad, prompting the need for a completely different diagnostic and therapeutic approach in children. Although cystic fibrosis is still the most common cause of exocrine pancreatic insufficiency, other causes such as chronic pancreatitis may be as common as Shwachman Diamond syndrome. Long-term effects of pancreatic diseases may be staggering as children suffer from significant disease burden, high economic cost, nutritional deficiencies, pancreatogenic diabetes and potentially pancreatic cancer.

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“…Milder JBS phenotypes have been described, thus the absence of multiple congenital anomalies or mental retardation does not rule out this syndrome. 78, 79 …”

Section: Exocrine Pancreatic Insufficiency (Epi)mentioning

confidence: 99%

Pancreatic Disorders

Uç

Fishman

2017

Pediatric Clinics of North America

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“…Our findings are consistent with other studies which reported a very similar picture of JBS [ 2 ]. However, two other different studies reported cases of JBS with normal intelligence [ 11 , 12 ]. The variation in the phenotypic features of those patients can be explained by having different types of mutations that affect the gene encoding UBR1.…”

Section: Discussionmentioning

confidence: 99%

Performance of Children With Johanson-Blizzard Syndrome After Cochlear Implantation

Alwadee

Alyousef

Yousef

et al. 2021

Cureus

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“…3 In 2014, Sukalo et al reported that 21 of 60 published mutations (35%) were missense or small in-frame deletions. 8 Later in 2015, Atik et al 9 reported a case of JBS carrying compound heterozygous mutations in UBR1 gene. These were described affecting the transcript NM_174916, and were a maternally inherited splice site mutation IVS22 þ 5GNC (c.2432 þ 5G > C) and a paternally inherited missense mutation p. L427R (c.1280T > G).…”

Section: Discussionmentioning

confidence: 99%

Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

et al. 2020

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Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive genetic disorder, characterized by exocrine pancreatic insufficiency, a distinct abnormal facial appearance and varying degrees of growth retardation. Ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene mutations are responsible for the syndrome. Here, we describe a 2-month-old female infant, who presented with oily diarrhea, facial dysmorphia, scalp defect, hearing defects, and growth impairment. Molecular genetic testing revealed a novel frameshift mutation in UBR1, c.4027_4028 del (p.Leu1343Valfs*7), which was not previously described in JBS in the literature.

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Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation

Cited by 10 publications

References 19 publications

Pancreatic Disorders

Pancreatic Disorders

Performance of Children With Johanson-Blizzard Syndrome After Cochlear Implantation

Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

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