New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

Mitochondrion ◽  
2010 ◽  
Vol 10 (4) ◽  
pp. 335-341 ◽  
Author(s):  
Vassili Valayannopoulos ◽  
Coralie Haudry ◽  
Valérie Serre ◽  
Magalie Barth ◽  
Nathalie Boddaert ◽  
...  
Keyword(s):  
Methylmalonic Aciduria ◽  
Phenotypic Spectrum

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a German family with FHM1, cerebellar atrophy and mental retardation

2007 ◽  
Vol 34 (S 2) ◽  
Author(s):  
T Freilinger ◽  
M Bohe ◽  
B Wegener ◽  
M Dichgans ◽  
H Knoblauch
Keyword(s):  
Mental Retardation ◽  
Cerebellar Atrophy ◽  
German Family ◽  
Phenotypic Spectrum

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Spectrum

Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia

2003 ◽  
Vol 166 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Takao Maruyama ◽  
Naohiko Sakai ◽  
Masato Ishigami ◽  
Ken-ichi Hirano ◽  
Takeshi Arai ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Cholesteryl Ester Transfer Protein ◽  
Protein Gene ◽  
Gene Mutations ◽  
Transfer Protein ◽  
Phenotypic Spectrum

Varied phenotypic spectrum presenting of paroxysmal exercise–induced dyskinesia: a Turkish family with SLC2A1 mutation

2021 ◽  
Author(s):  
Murat Gultekin ◽  
Muhammet Ensar Dogan ◽  
Gulsah Simsir ◽  
Ayse Nazlı Basak
Keyword(s):  
Phenotypic Spectrum ◽  
Turkish Family ◽  
Exercise Induced

Mutation and Phenotypic Spectrum of Patients With RASopathies

2020 ◽  
Vol 58 (1) ◽  
pp. 30-33
Author(s):  
Meenakshi Lallar ◽  
Sunita Bijarnia-Mahay ◽  
I. C. Verma ◽  
Kaushik Mandal ◽  
Ratna Dua Puri
Keyword(s):  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood

2021 ◽  
Vol 185 (5) ◽  
pp. 1606-1609
Author(s):  
Sweta Das ◽  
Koumudi Godbole ◽  
Suneetha Susan Cleave Abraham ◽  
Paramasivam Ganesan ◽  
Payal Kamdar ◽  
...  
Keyword(s):  
Phenotypic Spectrum ◽  
Indian Patients ◽  
Syndrome Report

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4 ‐related disease

2021 ◽  
Author(s):  
Maxime Cadieux‐Dion ◽  
Susan Hughes ◽  
Kendra Engleman ◽  
Eric T. Rush ◽  
Carol Saunders
Keyword(s):  
Related Disease ◽  
Phenotypic Spectrum ◽  
Nager Syndrome

scholarly journals Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1128
Author(s):  
Marilena Nakaguma ◽  
Nathalia Garcia Bianchi Pereira Ferreira ◽  
Anna Flavia Figueredo Benedetti ◽  
Mariana Cotarelli Madi ◽  
Juliana Moreira Silva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Male Patient ◽  
Missense Variant ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Incomplete Penetrance ◽  
Growth Hormone Gene ◽  
Posterior Lobe ◽  
Allelic Variants ◽  
Phenotypic Spectrum

We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patient with severe isolated growth hormone deficiency (IGHD) born to consanguineous parents. A hemizygous SOX3 allelic variant (p.Met304Ile) was found in a male patient with IGHD and hypoplastic anterior pituitary. YASARA, a tool to evaluate protein stability, suggests that p.Met304Ile destabilizes the SOX3 protein (ΔΔG = 2.49 kcal/mol). A rare, heterozygous missense variant in the TALE homeobox protein gene, TGIF1 (c.268C>T:p.Arg90Cys) was found in a patient with combined pituitary hormone deficiency (CPHD), diabetes insipidus, and syndromic features of holoprosencephaly (HPE). This variant was previously reported in a patient with severe holoprosencephaly and shown to affect TGIF1 function. A novel heterozygous TGIF1 variant (c.82T>C:p.Ser28Pro) was identified in a patient with CPHD, pituitary aplasia and ectopic posterior lobe. Both TGIF1 variants have an autosomal dominant pattern of inheritance with incomplete penetrance. In conclusion, we have found allelic variants in three genes in hypopituitarism patients. We discuss these variants and associated patient phenotypes in relation to previously reported variants in these genes, expanding our knowledge of the phenotypic spectrum in patient populations.

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum

2021 ◽  
Author(s):  
Ignacio Arroyo Carrera ◽  
Miguel Fernández‐Burriel ◽  
Pablo Lapunzina ◽  
Jair Antonio Tenorio ◽  
Verónica Deyanira García Navas ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Variant ◽  
Dysmorphic Features ◽  
Phenotypic Spectrum
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