453 Result(s)

Article

Clinical impacts of genomic copy number gains at Xq28

Duplications of the Xq28 region are the most frequent chromosomal aberrations observed in patients with intellectual disability (ID), especially in males. These duplications occur by variable mechanisms, inclu...

Toshiyuki Yamamoto, Keiko Shimojima, Shino Shimada, Kenji Yokochi… in Human Genome Variation (2014)

Article

A new sister journal to the Journal of Human Genetics—for the interest and benefit of the global community of human genome researchers

Katsushi Tokunaga in Human Genome Variation (2014)

Article

Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

We report a family case of type II early-onset Alzheimer’s disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for...

Artem V Artemov, Eugenia S Boulygina, Svetlana V Tsygankova… in Human Genome Variation (2014)

Article

A novel PITX2 mutation causing iris hypoplasia

Iris hypoplasia (IH) is rare autosomal dominant disorder characterized by a poorly developed iris stroma and malformations of the eyes and umbilicus. This disorder is caused by mutation of the paired-like home...

Masashi Kimura, Yoshihito Tokita, Junichiro Machida, Akio Shibata… in Human Genome Variation (2014)

Article

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 g...

Xue J Fu, Naoya Morisada, Fusako Hashimoto… in Human Genome Variation (2014)

Article

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T tran...

Manèl Chograni, Kaouther Derouiche, Myriam Chaabouni… in Human Genome Variation (2014)

Article

Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India

We report a large, non-consanguineous family comprising five generations of individuals residing in Gujarat, India affected with localized Epidermolysis Bullosa Simplex (EBS) Koebner type. We analyzed 14 indiv...

Shamsudheen K Vellarikkal, Ashok Patowary, Meghna Singh… in Human Genome Variation (2014)

Article

A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and sever...

Masaki Takagi, Satoshi Narumi, Riku Hamada, Yukihiro Hasegawa… in Human Genome Variation (2014)

Article

NAT2 genetic variations among South Indian populations

The N-acetyltransferases (NATs) are xenobiotic-metabolizing enzymes involved in the metabolism of drugs, environmental toxins and the aromatic amine carcinogens present in cigarette smoke. Genetic variations in N...

Saikrishna Lakkakula, Ram Mohan Pathapati, Gyaneshwer Chaubey… in Human Genome Variation (2014)

Article

SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

Allan–Herndon–Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is th...

Toshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura… in Human Genome Variation (2014)

Article

Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population

Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of the Northeast population from Brazi...

Gabriela ES Felix, Camila Abe-Sandes, Taísa MB Machado-Lopes… in Human Genome Variation (2014)

Article

Emerging evidence of coding mutations in the ubiquitin–proteasome system associated with cerebellar ataxias

Cerebellar ataxia (CA) is a disorder associated with impairments in balance, coordination, and gait caused by degeneration of the cerebellum. The mutations associated with CA affect functionally diverse genes;...

Sarah M Ronnebaum, Cam Patterson, Jonathan C Schisler in Human Genome Variation (2014)

Article

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder manifesting early onset macrocephaly and delayed-onset neurological deterioration. Characteristi...

Shino Shimada, Keiko Shimojima, Teruaki Masuda, Yoshiaki Nakayama… in Human Genome Variation (2014)

Article

Association of three SNPs in the PARP-1 gene with Hashimoto’s thyroiditis

Poly(ADP-ribose) polymerase-1 (PARP-1) has a vital role in the progression of the inflammatory response, and its inhibition confers protection in various models of inflammatory disorders. Therefore, we investi...

Arzuhan Koc, Muge Aydin Sayitoglu, Funda Karakurt, Bahadir Batar… in Human Genome Variation (2014)

Article

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, rec...

Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson… in Human Genome Variation (2014)

Article

A novel PTCH1 mutation in a patient with Gorlin syndrome

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative ge...

Nana Okamoto, Takuya Naruto, Tomohiro Kohmoto, Takahide Komori… in Human Genome Variation (2014)

Article

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two severely affected FH patients who ...

Faisal A Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel… in Human Genome Variation (2014)

Article

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal ma...

Masaki Takagi, Mitsuru Matsushita, Gen Nishimura… in Human Genome Variation (2014)

Article

Cold sore susceptibility gene-1 genotypes affect the expression of herpes labialis in unrelated human subjects

Our group has recently described a gene on human chromosome 21, the Cold Sore Susceptibility Gene-1 (CSSG-1, also known as C21orf91), which may confer susceptibility to frequent cold sores in humans. We presen...

John D Kriesel, Amiteshwar Bhatia, Alun Thomas in Human Genome Variation (2014)

Article

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures

Epilepsy of infancy with migrating focal seizures (EIFMS) is a rare, early-onset epileptic encephalopathy characterized by polymorphous focal seizures. De novo mutations of KCNT1 have been identified in cases of ...

Shino Shimada, Yoshiko Hirano, Susumu Ito, Hirokazu Oguni… in Human Genome Variation (2014)