Jeanne Ameil presenting

'Biallelic truncating variants in VGLL2 cause syngnathia in humans'
- recently published in JMG

jmg.bmj.com/content/early/…

#MDC23

Adolescent idiopathic #scoliosis risk may be influenced by LBX1 & GPR126.

Results of a new systematic review
▶️ bit.ly/3ZAXMuj

#GWAS #Polygenic

New Disease Gene!

AR pathogenic variants in MECR cause LHON-like optic neuropathy

#mitochondrial fatty acid synthesis (mtFAS) pathway a novel pathogenic mechanism in LHON

OpenAccess here - bit.ly/3Ru94i6

#Mito #LHON #Ophthalmology

👀 Diagnostic genome sequencing improves yield in inherited eye diseases

- 1000 consecutive probands
- Definite diagnosis in 57.4%
- 12.7% were SVs/ non-coding variants

OpenAccess: bit.ly/46nNlfU

#ClinicalGenetics #Ophthalmology #Genomics

👀 Interested in eye genetics?
Lots good in JMG this week
posts to follow...

Does germline BRCA1 promoter methylation explain previously unexplained hereditary breast/ovarian cancer pedigrees?

New Research this week
bit.ly/46mMAnm

#BreastCancer #BRCA #Epigenetics

📰Updates on hereditary haemorrhagic telangiectasia (HHT) diagnostic criteria
after genome sequencing of ‘gene-negative’ individuals

- Phenotypic assignment can be difficult
- Molecular diagnostics most accurate
- No evidence for HHT3

#OpenAccess : bit.ly/3OUvplW

- Research informing the debate -
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer

OpenAccess: bit.ly/44pLu8Y

#Cancer #Genetics #Screening Hospital Universitari Sant Joan de Reus

New article published (Szakszon et al.) further delineates GDACCF syndrome (ZNF148)

🧠 Global developmental Delay
🧠 Absent / hypoplastic Corpus Callosum
🙂 dysmorphic Facies

▶️ bit.ly/45QyV7G

#RareDisease #ClinicalGenetics #MedicalGeentics

🔯📈 Evaluation of European-based #Polygenic risk score for #BreastCancer in Ashkenazi Jewish (AJ) women in Israel

➡️ PRSs based on European GWAS data *can* identify AJ women with elevated risk of BC

OpenAccess: bit.ly/44vyGP8

Shai Carmi Kyriaki Michailidou Jnetics

New paper highlights #albinism , the clinical field where 'rare-meets-commmon' disease genetics, requiring multilayered analysis

➡️ clarifies longstanding debate re: impact of TYR c.1205G>A (p.Arg402Gln)

OpenAccess: bit.ly/44MvX3M

Ewan Birney Retina UK Fight for Sight

New cohort study of mut-type #MethylmalonicAcidemia :

- clinical
- biochemical
- genotype
- prognosis

in 365 Chinese cases

➡️ bit.ly/43SjpHV

#NewbornScreening #Metabolic
Pic: Manasa Shetty

#Alström syndrome:
- location of the ALMS1 variant does not majorly impact the phenotype,
- those in exon 10 associated with a higher prevalence of liver disease

OpenAccess bit.ly/46eXGM6

Brais Bea Mascato Alström Syndrome UK #RareDisease #MedicalGenetics #Genomics

Dominant -ve IKZF2 variants cause ICHAD syndrome 👇
bit.ly/441I8Jm

I mmunodysregulation
C raniofacial
H earing impairment
A thelia
D evelopmental delay

Maryam Vaseghi-Shanjani, Turvey lab, Catherine Biggs, Dr. Kyla Hildebrand, UBC Medicine, BC Children's Hospital Research Institute, BCCH Foundation #MorbidGene

There is variability in #BowelCancer age within #LynchSyndrome families

📈 New study shows there is only WEAK association between #PRS & multiple/young cases

➡️ bit.ly/42VYH8Y

NDuenas Joan Brunet Hannah Klink Marta Pineda
Genetic Counselling Laura Valle

Our article transfer service provides authors with a quick, easy and smooth submission and #peerreview service. Find out more about why you should use it: bit.ly/3mI9zaP

First study to explore and assess the craniofacial features of POLR3-related #leukodystrophy (POLR3A, POLR3B, POLR1C), proposing genotype–phenotype correlations

OpenAccess: bit.ly/45vny5W

#Genetics #Genomics #RareDisease

XL Alport (COL4A5) has heterogeneous phenotype

New study (bit.ly/45t8NAw) finds ♀️ have higher incidence of de novo variants & co-inherited podocyte gene variants & degree of GBM lesions related to ⬇️ in kidney function,

#Nephrology #Renal #RareDisease Pic: LibreText

TRAPPopathies lead to deranged cellular trafficking & autophagy

▶️New study TRAPPC11◀️
25 Roma individuals homozygous for founder variant
- Early onset muscle weakness, movement disorders, ID, epilepsy ⬆️CK

OpenAccess jmg.bmj.com/content/early/…

#RareDisease @PochMaris

Researchers identified novel mechanism that contributes to mis-splicing of SMN2 exon 7 bit.ly/3onLk3b

HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element

Cure SMA SMA News Today