Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia.

Adult-onset ataxias are a genetically and clinically heterogeneous group of movement disorders. In addition to nuclear gene mutations, sequence changes have also been described in the mitochondrial genome. Here, we present findings of mutation analysis of the mitochondrial gene MT-ATP6.

Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?

Objective: To investigate a putative role of TSPYL1 in male idiopathic infertility.

Design: Clinical article.

Setting: University hospital.

Outcome of intracytoplasmic sperm injection with and without polar body diagnosis of oocytes.

Objective: To compare the reproductive outcome of women undergoing intracytoplasmic sperm injection (ICSI) with or without polar body diagnosis of oocytes.

Design: Nonrandomized retrospective study.

Setting: University-based human genetic institute in collaboration with a private fertility center.

A high oocyte yield for intracytoplasmic sperm injection treatment is associated with an increased chromosome error rate.

Objective: To compare the chromosome error rate among oocytes from stimulated ovaries after retrieval of 1-5 oocytes, 6-10 oocytes, and >10 oocytes.

Design: Retrospective cohort study.

Setting: A university-based human genetic institute in collaboration with a private fertility center.

BRCA1 germline mutation in a woman with metaplastic squamous cell breast cancer.

Background: Breast cancers arising in women with germline BRCA1 mutations are most likely to be estrogen receptor (ER), progesterone receptor (PR), and HER2/neu negative (so-called triple negative or basal-like breast cancers). Metaplastic carcinoma with pure squamous differentiation is a very rare histological subtype (0.1% of all breast cancers) and is usually ER, PR, and HER2/neu negative by immunohistochemistry.